Linked Data
ClinVar Variation Id:
196954
dbSNP Id:
rs117583120
ExAC:
21:47423649 A / G
gnomAD v2:
21-47423649-A-G
gnomAD v3:
21-46003735-A-G
gnomAD v4:
21-46003735-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46003735A>G , CM000683.2:g.46003735A>G | GRCh38 |
| NC_000021.8:g.47423649A>G , CM000683.1:g.47423649A>G | GRCh37 |
| NC_000021.7:g.46248077A>G | NCBI36 |
| NG_008674.1:g.26987A>G , LRG_475:g.26987A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463060.6:n.1208A>G | ||
| ENST00000612273.2:c.935A>G | ||
| ENST00000682634.1:c.935A>G | ||
| ENST00000361866.8:c.2809A>G MANE Select | ENSP00000355180.3:p.Lys937Glu | |
| ENST00000361866.7:c.2809A>G | ENSP00000355180.3:p.Lys937Glu | |
| ENST00000486023.1:n.597A>G | ||
| ENST00000498614.5:n.1043A>G | ||
| ENST00000612273.1:c.2803A>G | ENSP00000483630.1:p.Lys935Glu | |
| NM_001848.2:c.2809A>G , LRG_475t1:c.2809A>G | NP_001839.2:p.Lys937Glu | |
| NM_001848.3:c.2809A>G MANE Select | NP_001839.2:p.Lys937Glu |